Newborn hearing screening and genetic testing in 8974 Brazilian neonates

Etiologic and diagnostic evaluation: Algorithm for severe to profound sensorineural hearing loss in Brazil

“…The results obtained here showed that mutations in the connexin 26 gene were the main genetic reason for SNHL in the patients studied. The c.35delG mutation was the most frequent, as reported elsewhere (Denoyelle et al, 1997;Zelante et al, 1997;Green et al, 1999;Gasparini et al, 2000;De Oliveira et al, 2007;Nivoloni et al, 2010). The results confi rmed the importance of GJB2 screening, especially for the c.35delG mutation, in Brazilian patients with severe to profound congenital SNHL.…”

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants

“…and KSS-P2 patients respectively, which were previously detected in patients that suffered prostate cancer (Petros et al 2005;Scott et al 2012 (Li et al 2004;Xing et al 2006), a sign in KSS patients, probably due to alteration of the rRNA structure leading to mitochondrial dysfunction (Chaig et al 2008;Xing et al 2006;Nivoloni et al 2010;Barbarino et al 2016); and c) m.10398AG variant within the ND3 gene identified in KSS-P1 and KSS-P3 has been identified as a risk factor with the metabolic syndrome (Juo et al 2010), and it is considered a predictor for T2D, which is present in some of the KSS patients (Ho et al 2014). In addition, since 153A>G and 152T>C variants are located close to the replication site in KSS-P1 and KSS-P3 respectively, it would be important to study their function in cybrids, since it has been reported that m.150C>T variant…”

PharmGKB summary

“…Penetrance was incomplete, suggesting that modifying factors may be necessary for development of hearing loss [66, 70–72]. Only two studies report individuals with the 827G variant who developed hearing loss after aminoglycoside treatment.…”